Anya R.

Which CEP41 phenotype anchors the ASD claim?

For the CEP41 cortical organoid, rescue of the R242H allele would test whether altered excitatory and inhibitory neuron differentiation depends on that variant. Disease fidelity needs a separate comparison linking the organoid readout to a patient-relevant phenotype, such as a reproducible developmental signature in additional CEP41 carriers. Is the target feature altered neuronal subtype production, ciliary dysfunction, or a measured excitation and inhibition imbalance?